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Aldinger Lab

The Aldinger Lab uses developmental neuroscience and computational approaches to decipher the mechanisms that cause pediatric neurogenetic disorders and pathologies associated with structural brain changes, cognitive impairment, and epilepsy.

Research Projects

Neurovascular regulation in neurodevelopmental disorders

Brain development is shaped by both genetic and environmental drivers. Our exome sequencing analysis of patients with structural cerebellar abnormalities found that cerebellar malformations are features of monogenic neurodevelopmental disorders, confirmed a major contribution for non-genetic prenatal risk factors in their etiology, and found that the expression of cerebellar malformation genes is concentrated in limited cell types of the developing human cerebellum, including neuronal progenitors and endothelial cells.

We are now introducing patient-derived variants into human neuronal cell lines and iPSCs to investigate the differential contributions of rare gene variants to neuronal and vascular development.

Integrative genetic/genomic and phenotypic analyses of neurodevelopmental disorders

Specific neurodevelopmental disorders are defined by both their shared clinical features and, increasingly, by their genetic cause. The biological mechanisms underlying neurodevelopmental disorders are poorly understood and genomics tools provide methods for identifying convergent pathways at molecular and cellular levels that could inform therapeutic development across disorders.

We are continuing our gene discovery and human cell atlas work to expand the sensitivity and specificity of developmental multiomic datasets. We are integrating large-scale datasets to provide context for interpreting relationships between candidate genes and disease and to examine the biological mechanisms underlying the clinical, molecular, and cellular phenotypes of neurodevelopmental disorders.

Preclinical development for precision therapeutics of developmental brain disorders

Microtubule-associated serine/threonine kinases (MAST) are large enzymes that share a domain of unknown function (DUF1908), a serine-threonine kinase (STK) domain, and a postsynaptic density protein-95/discs large/zona occludens-1 domain (PDZ). Several of the MAST family members are newly recognized as developmental brain disorder genes, but little is known about these genes’ properties and functions.

Our research focuses on deciphering the role of MAST4 in brain development, the impact of MAST4 mutations to the developing brain, defining the MAST4 interactome, and model development for preclinical research.

Lab Team

  • Jillian  Etchen

    Jillian Etchen

    Research Scientist I

  • Lindsey  Sydnor

    Lindsey Sydnor

    Research Scientist I

Publications

View a complete list of Dr. Aldinger’s publications on PubMed.

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